Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
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DOI：
10.1126/science.1073569
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发表时间：
2002-08-23
期刊：
影响因子：
56.9
通讯作者：
Keating, MT
中科院分区：
文献类型：
--
作者：
Splawski, I;Timothy, KW;Keating, MT
在美国，每年大约有45万人死于心律失常。我们鉴定了心脏钠通道基因SCN5A的一种变异，该变异与非裔美国人的心律失常相关（P = 0.000028），并与非裔美国人家族的心律失常风险相关（P = 0.005）。在转染细胞中，变异等位基因（Y1102）加速通道激活，增加异常心脏复极和心律失常的可能性。大约13.2%的非洲裔美国人携带Y1102等位基因。因为Y1102对风险有微妙的影响，大多数携带者永远不会有心律失常。然而，Y1102可能是一个有用的分子标记物，用于预测心律失常易感性的背景下，额外的后天风险因素，如使用某些药物。
Every year, similar to450,000 individuals in the United States die suddenly of cardiac arrhythmia. We identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans ( P = 0.000028) and linked with arrhythmia risk in an African-American family (P = 0.005). In transfected cells, the variant allele (Y1102) accelerated channel activation, increasing the likelihood of abnormal cardiac repolarization and arrhythmia. About 13.2% of African Americans carry the Y1102 allele. Because Y1102 has a subtle effect on risk, most carriers will never have an arrhythmia. However, Y1102 may be a useful molecular marker for the prediction of arrhythmia susceptibility in the context of additional acquired risk factors such as the use of certain medications.